good morning, i'm dr. sanjay gupta. welcome to a special edition of smd. when you think of "house" you think of medical mysteries. there are medical mysteries all around us. today, we are going to take you to a place patients go when no one has been able to tell them what's wrong. they are real medical mysteries with real people. let's get started.

what if you got sick with a life-threatening condition, but your doctor doesn't know why or what to do. i'm going to take you inside a hospital, where a team of the most brilliant minds in medicine solve illnesses. it's outside the capital. you are going to meet amazing patients. maryland. deep inside this nih complex, dr. william gahl leads a team of doctors. they are the best in the world. together, they focus their vast expertise to save patients lives. they are detectives in ter ch of clues to solve mysteries no other doctors could solve. >> you are talking about patients seen by some of the best in the country here.

they are good clinicians and diagnostic doctors everywhere. you are taking the hardest, the most challenging cases of all. >> we expect a high failure rate. we expect a success rate of 10% or 15% or so. >> the program was launched two years ago at nih. it accepts the rarest of medical cases. itis not only about saving lives. they are hoping to discover new diseases and create new science. >> it's the inspiration we all have as clinical researchers. >> they have had more than 3,000 inquiries. more than 1,000 applications made it to dr. gahl's desk. they have accepted a little over 300 patients. >> you have to tell a lot of people no. >> we do, yes. >> it seems like that would be hard. >> it is hard. it's very hard.

i have to take sol las in the fact we have helping a chosen few. >> the few with conditions no one can diagnose. chi lee dawn was born in may, 2004. the picture of a perfect baby girl. she developed like a healthy toddler. >> she was above average on everything. she could say her abcs when she was 18 months old. >> then at three and a half, she was diagnosed with type i diabetes. shortly after that, they noticed something wasn't right. it began with a voice tremor. >> i have to eat. >> then she had a siezure. by the time she turned 4, her face started to twitch. >> does your face feel funny?

>> no. >> the first day you realized something wasn't right with her. she was a precocious child, zooming past the milestones. you are a parent saying is this me being overly sensitive. >> i was told that. i was looking for things that weren't there. it's just really hard. i don't know. >> we actually spent a lot of time video taping her when we saw the little thing that is started happening because no one believed us. >> do you know when your birthday is? good girl. >> the twitching spread down the entire right side of her body. her head tilted to the right. by then, the doctors agreed something was wrong, but what was it? the little girl was deteriorating. >> at this point, i didn't know if i should plan for her to go to kindergarten or plan a

funeral. >> sally's mystery didn't begin until later in life. she was in her late 40s when her muscles began growing out of control. do you remember looking at her file? >> yes. in my 38 years i have never seen a case like this. okay. that's impressive. what is that? well, when you see a picture then. it's pretty impressive. >> like all patients selected, sally and her husband and kylie and her mom and dad would come to nih for a week of complex and exhaustive tests. a medical strike force was setting out to solve a mystery and to save their lives. so, what is next for these two patients? the most invasive, comer sm

testing they have experienced. people expect an answer at the end of a hospitalization. will they find one? tough questions ahead. chi li's parents continue their search for a diagnosis. but your blood sugar may still be high, and you need extra help. ask your doctor about onglyza, a once daily medicine used with diet and exercise to control high blood sugar in adults with type 2 diabetes. adding onglyza to your current oral medicine may help reduce after meal blood sugar spikes and may help reduce high morning blood sugar. [ male announcer ] onglyza should not be used to treat type 1 diabetes or diabetic ketoacidosis. tell your doctor if you have a history or risk of diabetic ketoacidosis. onglyza has not been studied with insulin. using onglyza with medicines such as sulfonylureas may cause low blood sugar. some symptoms of low blood sugar are shaking, sweating and rapid heartbeat. call your doctor if you have an allergic reaction like rash, hives or swelling of the face, mouth or throat. ask your doctor if you also take a tzd

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we are back with sgmd. today, we are shining a light on doctor detectives. patients really come from all over the place. it's a place of last resort. last hope. kylie and sally traveled here for testing. the doctors are looking for little clues. things that are not that obvious but could solve the puzzle. we pick up with kylie's story. she was sick and getting sicker. her parents spent nearly two years with specialists.

no one could diagnose what was happening to kylie. her voice tremors, the twitches that were convulsing the entire right side of her body. >> i felt like a bad parent. why can't i help my kid. >> can't really put it into words. helpless. >> kylie and her parents made their way from reno, nevada to maryland and the nih in hopes of figuring out what could be wrong with kylie. do you want to know what's going on with her if there's nothing that can be done about it? >> yeah. >> why? >> i think it would be nice to have a prognosis. to know -- i mean if it's not treatable, if it's terminal, how

much time we have left as opposed to not knowing. it could all end tomorrow. >> kylie will under go a week-long series of tests by top medicals at nih. it's physically draining for everyone. for kylie's mom and dad, emotionally wrenching. the week is intense. >> it's a complex case. it could be difficult to solve. >> in the right leg, you see a lot of movement, the right food is turned inward. it's abnormal tone. a lot of tone in the muscle groups here. the left side has it a little bit as well. not as bad. there's the constant movement going on. you can see it in the feet and hands and eyelids and the voice.

dr. gahl and his team look at everything for clues. >> what happens with sleep? >> it stops when she sleeps. >> stops when she sleeps? >> completely. >> that's an important clue, right? >> very important. >> her tests begin in early morning. >> beautiful. can i tell you something? you are all done. good job. >> they go late into the night. >> a baby boy. >> it's hard. it's really hard. hopefully it's for a good cause. >> in the hallways, specialists hold meetings on the fly throwing out new theories hoping something they learned fits into the bigger puzzle. >> unanswered questions. >> for a lot of patients as we were investigating this really got the sense this ends up being a place of last hope or last

resort for them. that's a lot of pressure. >> it is. we try to be realistic about it and get our patients to be realistic, too. we have been to the best places in the country, now here. we have 10% to 15% success rate. i don't want you to get your hopes up too, too high. but, on the other hand, we don't want to take hope away. >> sally knew what she was doing there. >> i took that disclaimer and i heard it. i still clutched a strong dose of hope. >> up next, you are going to hear more about sally. her own body is turning against her. doctors are baffled. can they solve the puzzle? her story is next. directions for you now. we got it. thank you very much! check it out. i can like, see everything that's going on with the car. here's the gas level. i can check on the oil. i can unlock it from anywhere.

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welcome back to sgmd. sally has a mysterious disease that's causing her muscles, all of them, to grow out of control. so massive, they are starting to crush her. i joined sally and her doctor at the nih. it's national institute of health. they are trying to solve the puzzle. they put her through tests and evaluations. here's her story. at 53 years old, she was physically ripped. >> everybody assumed i spent a lot of time in the gym. >> sally didn't lift weights. in fact, whatever was causing her body to bulk up was taking away her ability to live her life. >> it was very frustrating. i was losing the ability to do the things i love to do that became increasingly difficult

just to walk. at some point, i knew if it continued, it would kill me. >> she saw countless medical specialis specialists. no one had an explanation. dr. gahl was trying to solve the mystery. >> this is super impressive. i mean you can literally see a cleavage in the middle of her back because the muscles are so big. dr. gahl is the lead investigator. >> bones aren't involved. just confined to the muscle. >> during a week of intense tests, there are scans, bloodwork, examination of everything going on inside sally's body. >> this is her brain. it's incredible. >> when the images were found, it was seen the muscles, even the muscles that govern the movement of the eye, really

small muscles are huge. the radiologist saw this and wednesday wild. look at the size of this, they are three to four times bigger. >> they have probably never seen anything like this. >> right. there's no way to make these muscles bigger. it's not like lifting weights. why are they that big. >> it's a clue. it suggests something inside the muscle itself. the team took a sample. >> you cook a muscle from her arm? >> right. this was one of those judgment decisions because she had had a muscle biopsy one year before read as normal. we weren't 99% sure we should do this. we were 70% or 80% sure. >> in five days the tests are complete. sally is sent home to north carolina, but no diagnosis. not yet. gahl and his team treat their patients like a crime scene. they collect all the evidence,

then try to make sense of it. >> we do like detective work. remember, a lot of the detective work takes place after the patients have gone. >> that decision to take the sample of muscle tissue from sally's bicep will prove to be a key part of the puzzle. >> you are probably wondering how do all the clues come together and is it solvable? ahead, we have the conclusion of this medical mystery. when i was seventeen, i was not good to my skin.

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concerns about heart problems. the fda decided avandia should be restricted to patients who can't control diabetes with other complications. glaxosmithkline says it continues to believe it's important. the european medical agency sort of the european equivalent of the fda say the drug should be pulled entirely from the market and shouldn't be advertised. that decision must be ratified still by the european commission and a final decision is expected in the next few weeks. also in other news you may remember the whole thing a month ago about an iowa company forced to recall millions of eggs because of a salmonella outbreak. now the owner of an iowa firm involved in the recall has apologized to anyone who may have become sick from his tainted eggs. the owner of wright county eggs says he was horrified when he learned that the widespread alert possibly originated at his company. a house subcommittee is investigating the outbreak and the president of another egg

firm has declined to answer congressmen's questions when asked if he knew about questionable conditions at one of the facilities. the census bureau says poverty is at the highest in decades. we point this out because when thinking about things like joining a gym and trying to get fit many people tell me they can't afford it. i wanted to spend just a minute today showing you how i work out. my trainer hooked me up with an exercise circuit i can do just about anywhere even on the road, the local park the easiest place. chinups, lunges, jumping jacks, even running short hills without a lot of rest in between. it's kind of like being in gym class back in grade school. you want to use what's around you. in this case it's sort of a green workout and you can use all these different muscle groups and exercise them. a workout like this really gets the heart rate up to the maximum level and keeps it there as well for at least 30 minutes. that's what the american heart association wants you to do.

will this team of brilliant doctors be able to solve the puzzle of sally and kylie? mmmm. you don't love me anymore do you billy? what? i didn't buy this cereal to sweet talk your taste buds it's for my heart health. good speech dad. [ whimper ] [ male announcer ] honey nut cheerios tastes great and its whole grain oats can help lower cholesterol. bee happy. bee healthy.

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we're back with "sgmd." all morning long you've had the opportunity to meet these two patients who have mysterious diseases. they came to the nih as a last resort to find out if anyone could tell them what was wrong and to try to come up with some

sort of treatment. big question, have they been able to solve these mysteries? take a look. as tests came back clues showed the electrical charges in kylie's brain were not coming from just one area but in fact from all over. so they were back to square one. >> well, you try to differentiate whether this is something that was genetic or something environmental. in other words, that happened to her. really, that's a dichotomy here. >> in time, an analysis of kylie's dna revealed the genetic cloou. they found a mutation in a particular gene that makes a protein called leforrin. is it possible what we're talking about with kylie is truly something that's never been described before? >> it's very possible. >> brand new? >> brand new mutation and maybe identifying a gene that is not known previously to cause a human disease. >> back home in reno, nevada,

gina and steven are trying to focus on enjoying the time they have as a family. although kylie is deteriorating, she's happy. >> maybe someday we'll get that phone call, hey, we think we might know what it is. >> in bethesda, maryland, the doctors at the undiagnosed disease program are digging deeper. they're doing a dna analysis of kylie's parents and sisters. they know it is now a race. >> every new case that comes to us brings with it a human story. i think the important thing is for us as professionals to look at the successes that we have and to try to not dwell on the -- on the failures that we have, because we fail so often. >> but not always. luckily for sally massagee, the experts at the udp solved her mystery.

>> i expected miracles from them and they gave it to me. >> tissue sample they took from sally's muscle hit the jackpot. in the congo red staining of the biopsy, scientists at the udp found the presence of amyloid, abnormal protein in the muscles that come from bone marrow. mystery solved. the diagnosis a.l. amyloidosis. it's rare in which protein deposits in a patient's organs or muscles. it manifested in her skeletal muscles. >> you get mysteries that you don't solve and you get mysteries that you solve. this is one that you get to put a check in the solved column? >> yeah. yeah, it is. >> that's got to be a pretty good feeling. >> oh, it was the best. basically, it's -- sort of justifies our existence. >> but for sally, a diagnosis meant only that now she had a chance for survival. there is no cure for this disease.

in june of last year at the mayo clinic, she underwent chemotherapy and stem-cell transplant in the figh of her life. >> and there were times in the process when i thought it was real possible i would die. >> today sally massagee is far from 100%. doctors don't know if sally's body will ever return to what it was like before the disease struck. but for sally, that's not what's important. >> no. routine, ordinary moments of life are so wonderful and are so precious. and i have them and i'm so grateful to -- and they found it and found it just in time. >> i have to tell you just incredible stuff. i've been fascinated by the doctors at this place, the undiagnosed disease program long before i met them. they are doctors who are trying to look at the anomalies, the aberrations most people dismiss and trying to make s